Medicine and Health Sciences Commons^™

Health-Related Quality Of Life After Neonatal Treatment Of Symptomatic Tetralogy Of Fallot: Insights From The Congenital Cardiac Research Collaborative, George T Nicholson, Jeffrey D Zampi, Andrew C Glatz, Bryan H Goldstein, Christopher J Petit, Yun Zhang, Courtney E Mccracken, Athar M Qureshi, Caren S Goldberg, Jennifer C Romano, Mark A Law, Jeffery J Meadows, Shabana Shahanavaz, Sarosh P Batlivala, Shiraz A Maskatia, Asaad Beshish, Michael L O'Byrne, R Allen Ligon, Kathryn O Stack, Hala Q Khan, Shalin Parekh, Dawn L Ilardi

Faculty, Staff and Students Publications

To evaluate the association between initial management strategy of neonatal symptomatic Tetralogy of Fallot (sTOF) and later health-related quality of life (HRQOL) outcomes. We performed a multicenter, cross-sectional evaluation of a previously assembled cohort of infants with sTOF who underwent initial intervention at ≤ 30 days of age, between 2005 and 2017. Eligible patients’ parents/guardians completed an age-appropriate Pediatric Quality of Life Inventory, a Pediatric Quality of Life Inventory Cardiac Module Heart Disease Symptoms Scale, and a parental survey. The association between treatment strategy and HRQOL was evaluated, and the entire sTOF cohort was compared to published values for the …

The Association Between Condom Use Self-Efficacy And Condom-Decision Abdication Among College Students, Mikaela Gjoka, Madison K Firkey, Alan Z Sheinfil, Sarah E Woolf-King

Faculty, Staff and Students Publications

Objective: Condomless sex and its related consequences are a persistent problem on college campuses in the United States. This study aimed to examine the association between condom use self-efficacy and condom-decision abdication among college students, and whether this association was moderated by gender.

Participants & methods: Undergraduate college students (N = 212; 50.5% female) were recruited via Amazon Mechanical Turk as part of a larger online study that examined normative feedback for condom use.

Results: The association between condom use self-efficacy and condom-decision abdication was significantly moderated by gender (B = -0.07, p < .001), such that condom use self-efficacy was associated with condom-decision abdication in college women (B = -0.05, p < .005) but not in college men (B = .02, p = .18).

Conclusion: Findings from this study suggest that …

Resilience And Childhood Trauma In Mood Disorders: Psychopathological Implications And Treatment Response, Giovanni Camardese, Antonio Maria D'Onofrio, Francesca Bardi, Alessio Simonetti, Alexia Koukopoulos, Delfina Janiri, Lorenzo Moccia, Marianna Mazza, Mauro Pettorruso, Giovanni Martinotti, Gabriele Sani

Faculty, Staff and Students Publications

Background and aim: Childhood trauma is a key risk factor for mood disorders and is associated with greater clinical severity, while resilience may act as a protective factor. This study investigates how childhood trauma and resilience interact to shape psychopathology and treatment response in patients with major depressive disorder (MDD) and bipolar disorder (BD).

Methods: The study included 669 participants: 569 patients (380 MDD, 189 BD) and 100 healthy controls (HC). Symptom severity was assessed using standardized scales, with follow-up evaluations of depressive symptoms at six months. All participants completed the Childhood Trauma Questionnaire (CTQ) and Connor-Davidson Resilience Scale (CD-RISC). …

Fast And Accurate Measurement Of Small Field Dosimetry Using A Novel Scintillation Detector, Yiding Han, Jingzhu Xu, Yao Hao, Baozhou Sun

Faculty, Staff and Students Publications

Background: The most used instruments for small-field dosimetry have notable limitations, including the need for correction of output factors, limited scanning speeds, and challenges in alignment for percentage depth dose (PDD) measurements, particularly for extremely small fields. However, plastic scintillation detectors (PSDs) are an attractive alternative for small-field dosimetry due to their correction-free nature, linear dose response, and fast response time.

Purpose: This study evaluates the robustness and accuracy of the dosimetric measurements using a new water-equivalent PSD in small-field dosimetry. The study also aims to report accurate measurements of output factors, profiles, and an indirect method for measuring PDD …

Evaluating Covid-19 Severity Prediction And Immune Dynamics With Nulisaseq: Insights From The Impacc Study, Koji Abe, Tyson H Holmes, Tran T Nguyen, Seunghee Kim-Schulze, Ofer Levy, Lindsey R Baden, Esther Melamed, Lauren I R Ehrlich, Grace A Mccomsey, Rafick P Sekaly, Charles B Cairns, Elias K Haddad, Albert C Shaw, David A Hafler, Ruth R Montgomery, David B Corry, Farrah Kheradmand, Mark A Atkinson, Scott C Brakenridge, Nelson I Agudelo Higuita, Jordan P Metcalf, Catherine L Hough, William B Messer, Bali Pulendran, Kari C Nadeau, Mark M Davis, Ana Fernandez-Sesma, Viviana Simon, Monica Kraft, Chris Bime, Carolyn S Calfee, David J Erle, Joanna Schaenman, Elaine F Reed, Al Ozonoff, Bjoern Peters, Steven H Kleinstein, Alison D Augustine, Joann Diray-Arce, Patrice M Becker, Nadine Rouphael, Holden T Maecker

Faculty, Staff and Students Publications

The National Institutes of Health-funded IMPACC (IMmunoPhenotyping Assessment in a COVID-19 Cohort) evaluated longitudinal clinical and immunological features of human patients hospitalized for COVID-19. This study focuses on comparing the novel NULISAseq assay with the Olink platform using a subset of participants to assess their efficacy in predicting COVID-19 severity and understanding immune response dynamics. Our findings reveal that NULISAseq could provide superior detectability and dynamic range across various targets. Elastic net analysis demonstrated that specific proteins, including amphiregulin, effectively predict COVID-19 severity from sera at admission (samples drawn within 96 h of admission), with a test area under the …

The State Of Educational Research In Cardiothoracic Surgery: A Review Of The Literature, Amirtha Shekar, Victoria Hart, John Treffalls, Travis J Miles, Todd K Rosengart, Marc R Moon, Joseph S Coselli, Lauren M Barron, Shawn S Groth, Shanda H Blackmon, Ravi K Ghanta, Dawn S Hui, Subhasis Chatterjee

Faculty, Staff and Students Publications

Objective: Evolving training paradigms in cardiothoracic surgery (CTS) are changing the educational needs of integrated residents and traditional fellows. Educational research is important for evaluating specialty training. This study assessed CTS education articles to analyze their prevalence, content, and reach.

Methods: In a cross-sectional observational study of education articles published on North American CTS programs from January 2013 through December 2023, articles were identified by querying PubMed, other databases, and journals. Articles that passed an initial abstract review underwent full-text review. Articles were organized by content into 9 categories: curriculum, simulation, trainee assessment, program evaluation, wellness/burnout, diversity/inclusion, mentorship/career, outcomes, and …

Administration Of A Novel Reprogramming Formula Improves Cardiac Function And Decreases Cardiac Fibrosis In A Myocardial Infarction Model, Megumi Mathison, Saliha S Pathan, Aliya Lackan, Jianchang Yang, Tamer M A Mohamed, Todd K Rosengart

Faculty, Staff and Students Publications

Background: The reprogramming of fibroblasts into (induced) cardiomyocytes offers a direct myocardial regeneration strategy for improving postinfarction myocardial function. Compared to lower-order species, human cells are relatively resistant to such reprogramming. We previously found that p63-transactivation inhibitory domain (TID; the portion of p63 that physical interacts and interferes with its activation of the epigenetic repressor HDAC1) combined with the cardio-differentiation factors Hand2 and Myocardin (HM) enhanced rat and human cell transdifferentiation. The present study sought to determine the in vivo effects of this reprogramming strategy in a rat myocardial infarction model.

Methods: Adult male and female rats underwent left anterior …

Rescue Bare-Metal Device Placement To Treat Iatrogenic Acute Type A Aortic Dissection During Transcatheter Aortic Valve Replacement, Hiroaki Osada, José G Diez, Ahmed Khouqeer, Susan Y Green, Marc R Moon, Vicente Orozco-Sevilla, Joseph S Coselli

Faculty, Staff and Students Publications

No abstract provided.

Technical Pitfalls And Initial Clinical Experience Using Femoral Staggered Multibranch Thoracoabdominal Aneurysm Repair Technique, Jong Hun Park, Giuliano Giova Volpiani, Alvaro Razuk, Leonardo Ferber, Lucas Ruiter Kanamori, Bruno Pagnin Schmid, Steven Maximus, Gustavo S Oderich

Faculty, Staff and Students Publications

Total transfemoral approach may be challenging in patients with narrow aortic lumens. We describe a novel total femoral staggered multibranch thoracoabdominal aortic aneurysm repair technique (FEM-SMART) to facilitate target vessel catheterization in this population. FEM-SMART is performed using a standard off-the-shelf multibranch stent graft via a total transfemoral approach. The endograft is partially deployed to the level of the celiac axis directional branch, which is selectively catheterized via contralateral femoral access using a steerable sheath. Subsequently, staggered endograft deployment, sequential catheterization of directional branches, and target vessel stenting are performed, starting with the superior mesenteric artery, followed by the renal …

Publisher Correction: Piezo1 Regulates Meningeal Lymphatic Vessel Drainage And Alleviates Excessive Csf Accumulation, Dongwon Choi, Eunkyung Park, Joshua Choi, Renhao Lu, Jin Suh Yu, Chiyoon Kim, Luping Zhao, James Yu, Brandon Nakashima, Sunju Lee, Dhruv Singhal, Joshua P Scallan, Bin Zhou, Chester J Koh, Esak Lee, Young-Kwon Hong

Faculty, Staff and Students Publications

No abstract provided.

Generation Of Ipscs (Rfsci007-A, Rfsci008-A) From A Patient With Early-Onset Bilateral Drusen And A Healthy Sibling For Retinal Disease Modeling, Sonali Singh, Wendy Runyon, Sam Hu, Paige Grona Kennedy, Ajeet Singh, Rinki Ratnapriya, Ritu Kumar, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Drusen are extracellular deposits between the retinal pigment epithelium and Bruch's membrane, commonly linked to age-related macular degeneration (AMD). However, their presence in younger individuals offers a unique opportunity to study early disease mechanisms before extensive degeneration. We generated two human induced pluripotent stem cell (hiPSC) lines from siblings' peripheral blood mononuclear cells-one with early-onset bilateral drusen and the other unaffected. This genetically matched iPSC pair enables investigation of early drusen associated pathological changes driving retinal disease development.

Derivation Of Pluripotent Stem Cell Lines (Rfsci005-A, Rfsci006-A) From Siblings Harboring Identical High-Risk Complement Variants With Discordant Age-Related Macular Degeneration, Naresh Rajendran, Ajeet Singh, Wendy Runyon, Sam Hu, Ritu Kumar, Rinki Ratnapriya, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.

Soluble C5b-9 (Sc5b-9) In Pediatrics-A Clinical Assessment, Ridwan B Ibrahim, Radwa Almamoun, Sarah E Sartain, Sridevi Devaraj

Faculty, Staff and Students Publications

Background: The soluble C5b-9 (sC5b-9) is a soluble form of the Terminal Complement Complex (TCC) that is released into the circulation with elevated levels, associated with increased morbidity and mortality in patients with complement-mediated inflammatory conditions. With the advent of eculizumab and ravulizumab, proper testing for diagnoses and therapeutic monitoring is warranted.

Methods: We evaluated both the analytical and clinical performance of the Quidel Microvue sC5b-9 Plus enzyme immunoassay. Analytical performance was evaluated with precision, linearity, interference studies, and correlation with a reference laboratory. Reference intervals were established using control donor samples [n = 26; median age 18.5 years (range …

Transcriptional Coregulator Zmiz1 Modulates Estrogen Responses That Are Essential For Healthy Endometrial Function, Sylvia C Hewitt, Frank Orellana, Ryan M Marquardt, Myeongjin Yi, Cynthia J Willson, Mark Y Chiang, Yong Song, Goutham Venkata Naga Davuluri, Christopher Day, Ramakrishna Kommagani, Joseph Rodriguez, Asgerally T Fazleabas, John P Lydon, Francesco J Demayo

Faculty, Staff and Students Publications

Estrogen is a critical regulator of endometrial health. Aberrant estrogen stimulation can result in infertility, endometrial cancer, and endometriosis. Here, we identified Zinc Finger MIZ-Type Containing 1 (Zmiz1) as a coregulator of uterine estrogen signaling. ZMIZ1 is colocalized with an estrogen receptor α–binding (ESR1-binding) super enhancer. ZMIZ1 mutations are found in endometrial cancer and its RNA levels trend toward reduction in endometrium of patients with endometriosis. ZMIZ1 is dynamically expressed in human endometrial tissues during the menstrual cycle. Disrupting ZMIZ1 in cultured human endometrial stromal cells resulted in impaired cell proliferation and decidual differentiation. Ablation of Zmiz1 using …

Hemophagocytic Lymphohistiocytosis In A Pediatric Lung Transplant Recipient, Sunil Chickmagalur, Anna Schrader, Dallas Parrish, David Moreno Mcneill, Maria C Gazzaneo, Ernestina Melicoff-Portillo, Nahir Cortes-Santiago

Faculty, Staff and Students Publications

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare complication of solid organ transplantation and is a syndrome of systemic hyperinflammation secondary to dysregulation of the inflammatory response, primarily involving lymphocytes and macrophages. It is often fatal and therefore early recognition and treatment are crucial. Among 11 adult cases of HLH in post-lung transplant cases found in the literature, only one patient survived.

Case: We report the first known pediatric case of HLH following lung transplantation. The patient, a previously healthy adolescent, developed end-stage bullous lung disease secondary to acute respiratory distress syndrome (ARDS) and underwent bilateral lung transplantation. Two months posttransplant, …

Cerebellar Purkinje Cell Stripe Patterns Reveal A Differential Vulnerability And Resistance To Cell Loss During Normal Aging In Mice, Sarah G Donofrio, Cheryl Brandenburg, Amanda M Brown, Tao Lin, Hsiang-Chih Lu, Roy V Sillitoe

Faculty, Staff and Students Publications

Age-related neurodegenerative diseases involve reduced cell numbers and impaired behavioral capacity. Neurodegeneration and behavioral deficits also occur during aging, and notably in the absence of disease. The cerebellum, which modulates movement and cognition, is susceptible to cell loss in both aging and disease. Here, we demonstrate that cerebellar Purkinje cell loss in aged mice is not spatially random but rather occurs in a pattern of parasagittal stripes. We also find that aged mice exhibit impaired motor coordination and more severe tremor compared to younger mice. However, the relationship between patterned Purkinje cell loss and motor dysfunction is not straightforward. Examination …

The Microstructure Of Metastatic Bone Lesions Suggests Tumor Mediated Alterations In Bone Mineralization, Hanwen Fan, Zhan Xu, Carla Berrospe Rodriguez, Noah Dover, Andrei Demkov, Morgan Lilly, Guillermo Aguilar, Larry J Suva, Xiang H-F Zhang, Yuxiao Zhou

Faculty, Staff and Students Publications

Breast, prostate and lung cancer cells frequently metastasize to bone, leading to disruption of the bone microstructure. This study utilized mechanical testing coupled with micro-CT imaging, digital volume correlation (DVC), and atomic force microscopy (AFM) nanomechanical testing to examine the mechanical property variations in mouse long bones (tibia) with metastatic lung cancer cell involvement, spanning from the whole-bone scale to the microstructural level. In addition, we also investigated how metastatic invasion alters the morphology of hydroxyapatite nanocrystals in bone at the nanometer scale. The biochemical composition within metastatic lesions was assessed using Raman spectroscopy and correlated with AFM mechanical testing …

Lilrb4 Regulates Circadian Disruption-Induced Mammary Tumorigenesis Via Non-Canonical Wnt Signaling Pathway, Olajumoke Ogunlusi, Mrinmoy Sarkar, Kayla Carter, Arhit Chakrabarti, Devon J Boland, Tristan Nguyen, James Sampson, Christian Nguyen, Danielle Fails, Yava Jones-Hall, Loning Fu, Gus Wright, Da Mi Kim, James J Cai, Bani Mallick, Alex C Keene, Jeff R Jones, Tapasree Roy Sarkar

Faculty, Staff and Students Publications

Epidemiological studies have shown that circadian rhythm disruption (CRD) is associated with the risk of breast cancer. However, the role of CRD in mammary gland morphology and aggressive basal mammary tumorigenesis and the molecular mechanism underlying CRD-induced carcinogenesis remain unknown. To investigate the effect of CRD on aggressive tumorigenesis, a genetically engineered mouse model of aggressive breast cancer was used. The impact of CRD on the tumor microenvironment was investigated using the tumors from LD12:12 and CRD mice via scRNA-seq, flow cytometry, multiplexing immunostaining, and realtime PCR. The effect of LILRB4-immunotherapy on CRD-induced tumorigenesis was also investigated. Here we investigated …

Biochemical And Clinical Response To A Sulfur-Restricted Diet In Ethylmalonic Encephalopathy, Steven H Lang, Andres Caceres Salgado, Matthew T Snyder, Brandy Rawls-Castillo, Aaron Williams, Charul Gijavanekar, Sarah H Elsea, Xia Wang, Mary Elizabeth M Tessier, Claudia Soler-Alfonso, Fernando Scaglia

Faculty, Staff and Students Publications

Introduction: Ethylmalonic encephalopathy (EE) is an often-severe inborn error of metabolism caused by biallelic variants in the ETHE1 gene leading to impaired detoxification of hydrogen sulfide (H2S). H2S is produced both exogenously by anerobic intestinal bacteria as well as by the endogenous catabolism of the sulfur-containing amino acids methionine and cysteine. Existing therapies including metronidazole, N-acetylcysteine (NAC), and orthotopic liver transplantation (OLT) have been pursued with the objective of reducing or detoxifying exogenously produced H2S. However, strategies to reduce endogenously produced H2S using a methionine and cysteine restricted diet are an understudied therapeutic avenue.

Methods: We performed an open-label, …

Clinical Exome Sequencing Efficacy And Phenotypic Expansions Involving Non-Isolated Congenital Anomalies Of Kidney And Urinary Tract (Cakut+), E Andres Rivera-Munoz, Xiaonan E Zhao, Jill A Rosenfeld, Pamela N Luna, Chad A Shaw, Jennifer E Posey, Daryl A Scott

Faculty, Staff and Students Publications

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) can occur in isolation or in conjunction with one or more non-CAKUT associated congenital anomalies or neurodevelopmental disorders (CAKUT+). A molecular cause is not identified in most individuals with CAKUT+. This is due, in part, to uncertainty regarding the efficacy of genetic testing and an incomplete understanding of the genes that cause CAKUT+. Here, we use data from 515 individuals with CAKUT+ (n = 500) or isolated CAKUT (n = 15) to determine the efficacy of clinical exome sequencing (cES) and to identify new phenotype expansions that involve CAKUT. We determined that …

Genetics Services In Latin America: A Descriptive Study Of Availability And Utilization Of Genetics In Healthcare, Ryan J German, Erin Atkinson, Eric A Storch, Claudia Soler-Alfonso, Sonia Margarit, Philip J Lupo, Stacey Pereira

Faculty, Staff and Students Publications

Genetic services are expanding globally, but access remains limited in low-resource regions such as Latin America. Understanding current service availability, barriers, and facilitators is critical to guide capacity building and improve patient care. We conducted a cross-sectional survey of healthcare professionals providing genetic services in Latin America. The survey, available in Spanish and English, assessed genetic services, referral patterns, testing availability, barriers, facilitators, and perceived needs. Descriptive statistics summarized quantitative data, and thematic analysis was applied to open-ended responses. Eighty-five respondents from 18 countries reported broad clinical activity across pediatric, cancer, and adult-onset genetic conditions. Commonly ordered tests included karyotype, …

A Model For Developing Subspecialty Clinical Practice Guidelines: The Geriatric Emergency Department Guidelines 20, Satheesh Gunaga, Christopher R Carpenter, Maura Kennedy, Lauren T Southerland, Alexander X Lo, Sangil Lee, Kirby Swan, Fabrice Mowbray, Rachel M Skains, Teresita M Hogan, Martin F Casey, Kei Ouchi, Naomi R George, Kerstin De Wit, Cameron J Gettel, Katherine Selman, Luna C Ragsdale, Anita N Chary, James D Van Oppen, Glenn Arendts, Charles L Maddow, Katherine M Hunold, Katren R Tyler, Danya Khoujah, Ula Hwang, Shan Liu

Faculty, Staff and Students Publications

The original consensus-based Geriatric Emergency Department (GED) Guidelines, published in 2014, established a framework of core principles for delivering high-quality, age-appropriate emergency care for older adults. In response to significant advances in geriatric emergency medicine research and evolving clinical priorities, we developed the GED Guidelines 2.0 to ensure continued relevance, clinical utility, and evidence-based rigor. This concept paper describes the systematic and iterative process undertaken to update the guidelines, including the formation of multidisciplinary working groups and the application of the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology. Unlike the original GED Guidelines, our approach prioritized methodological transparency, …

Gene Therapy Cm-Yapon Protects The Mouse Heart From Myocardial Infarction, Fansen Meng, Jeffrey D Steimle, Elizabeth Straight, Rich G Li, Yuka Morikawa, Zohaib Iqbal, Bing Xie, Jun Wang, Wyatt G Paltzer, Yi Zhao, Chang-Ru Tsai, Lin Liu, Maggie Lim, Rita A Schack, Daniel Ramirez, Katherine Carlson, Vaibhav Deshmukh, Jason M Karch, Robia G Pautler, Xiao Li, James F Martin

Faculty, Staff and Students Publications

Myocardial infarction (MI) affects millions of people worldwide, causing irreversible injury to the heart and impairing cardiac function1. In both mouse and pig MI models, activating YAP in cardiomyocytes (CMs) stimulates regenerative repair2,3. Here we developed an adeno-associated virus 9 (AAV9)-based therapy, termed CM-YAPon, which enables transient expression of an active YAP variant (YAP5SA) in CMs following exposure to the small molecule LMI070. A single LMI070 dose in mice triggers YAP5SA expression, CM cell cycle re-entry, and reprogramming of the cardiac microenvironment. YAP5SA induction after MI rapidly improves cardiac function while pre-MI induction confers …

Part Ii Common Questions And Misconceptions About Creatine Supplementation: What Does The Scientific Evidence Really Show?, Jose Antonio, Ann F Brown, Darren G Candow, Philip D Chilibeck, Stacey J Ellery, Scott C Forbes, Bruno Gualano, Andrew R Jagim, Chad Kerksick, Richard B Kreider, Sergej M Ostojic, Eric S Rawson, Michael D Roberts, Hamilton Roschel, Abbie E Smith-Ryan, Jeffrey R Stout, Mark A Tarnopolsky, Trisha A Vandusseldorp, Darryn S Willoughby, Tim N Ziegenfuss

Faculty, Staff and Students Publications

Creatine monohydrate supplementation (CrM) is a safe and effective intervention for improving certain aspects of sport, exercise performance, and health across the lifespan. Despite its evidence-based pedigree, several questions and misconceptions about CrM remain. To initially address some of these concerns, our group published a narrative review in 2021 discussing the scientific evidence as to whether CrM leads to water retention and fat accumulation, is a steroid, causes hair loss, dehydration or muscle cramping, adversely affects renal and liver function, and if CrM is safe and/or effective for children, adolescents, biological females, and older adults. As a follow-up, the purpose …

Alternative Splicing Of The Snap23 Microexon Is Regulated By Mbnl, Qki, And Rbfox2 In A Tissue-Specific Manner And Is Altered In Striated Muscle Diseases, Gabrielle M Gentile, R Eric Blue, Grant A Goda, Bryan B Guzman, Rachel A Szymanski, Eunice Y Lee, Nichlas M Engels, Emma R Hinkle, Hannah J Wiedner, Aubriana N Bishop, Jonathan T Harrison, Hua Zhang, Xander H T Wehrens, Daniel Dominguez, Jimena Giudice

Faculty, Staff and Students Publications

The reprogramming of alternative splicing networks during development is a hallmark of tissue maturation and identity. Alternative splicing of microexons (small, genomic regions ≤ 51 nucleotides) functionally regulate protein-protein interactions in the brain and is altered in several neuronal diseases. However, little is known about the regulation and function of alternatively spliced microexons in striated muscle. Here, we investigated alternative splicing of a microexon in the synaptosome-associated protein 23 (Snap23) encoded gene. We found that inclusion of this microexon is developmentally regulated and tissue-specific, as it occurs exclusively in adult heart and skeletal muscle. The alternative region is …

Education Research: Eeg Instruction: Findings From A Scoping Review, Andres Fernandez, Maryam Asoodar, Gregory Laynor, Alexis Peedin, Jeffrey B Ratliff, Urvashi Vaid, Swati A Karmarkar, Moushumi Sur, Vivianne Van Kranen-Mastenbroek, Dimitrios Papanagnou, Marian H J M Majoie, Dorene F Balmer, Satid Thammasitboon

Faculty, Staff and Students Publications

Background and objectives: Although EEG interpretation is a key skill in neurology, EEG instruction is variable and its landscape remains underexplored. Thus, we conducted a scoping review to expand the literature by providing a structured mapping of the EEG instruction literature and a foundation for future research in EEG instruction.

Methods: We followed a structured methodological framework for scoping reviews and report the findings in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. Research questions explored theoretical frameworks, methodologies, learner populations, instructional methods, and assessment approaches. Eligibility criteria were iteratively modified to focus …

Fibroblasts Are The Primary Contributors To A Disrupted Micro-Environment In End-Stage Pediatric Hypertrophic Cardiomyopathy, Hanna J Tadros, Diwakar Turaga, Yi Zhao, Chang-Ru Tsai, Iki A Adachi, Xiao Li, James F Martin

Faculty, Staff and Students Publications

Background: Hypertrophic cardiomyopathy (HCM) is a relatively rare but debilitating diagnosis in the pediatric population, and patients with end-stage HCM require heart transplantation. Here, we have examined the transcriptome in ventricular tissue from this patient group to identify cell states and underlying cellular processes unique to pediatric HCM.

Methods: We performed single-nucleus RNA sequencing (snRNA-seq) on explanted hearts at transplant in 3 pediatric patients with end-stage HCM and compared findings to pediatric control and adult HCM.

Results: We identified distinct underlying cellular processes in cardiomyocytes, fibroblasts, endothelial cells, and myeloid cells compared with controls. Pediatric HCM was enriched in cardiomyocytes …

Insights From A Survey Of School Nurses: Assessing The Challenges Of Constipation In Schools, Andrew S Chu, Eric H Chiou

Faculty, Staff and Students Publications

Objectives: School nurses are key responders to students with constipation, yet their experiences are underreported. This study surveyed their observations regarding constipation, identified barriers to student restroom access, and assessed educational needs.

Methods: In this descriptive, cross-sectional survey study, an anonymous online survey was distributed to school nurses participating in a virtual education series. The survey assessed nurse demographics, frequency of encounters with constipation and encopresis, school restroom policies, barriers to restroom use, accommodation requests, and training in constipation management.

Findings: Of 125 respondents, 95% encountered students with constipation at least monthly and 55% reported ≥ 6 encounters monthly. Commonly …

The Neonatal Gut Microbiome In Health And Disease, Geoffrey A Preidis

Faculty, Staff and Students Publications

No abstract provided.

Hes V20 Surpasses Galad For Hcc Detection: A Review Of Multi-Dimensional Biomarker Scores And Studies, Fouad Jaber, Hashem B El-Serag

Faculty, Staff and Students Publications

This was a narrative review of select studies published through September of 2024. We review the shift toward multi-dimensional scores such as HCC early detection screening (HES), GALAD, ASAP, and mt-HBT represents a significant advancement in biomarker research for hepatocellular carcinoma (HCC) detection. Unlike single biomarker approaches, these scores integrate various clinical and biochemical factors to enhance predictive accuracy by reflecting different complementary aspects of disease progression and HCC oncogenesis. Proper testing and validation of biomarker scores in phase 3 biomarker studies is essential before wide use can be recommended. We also review the comparative performance of biomarker scores in …